Late onset pompe's disease in a woman triggered by pregnancy, a genomic clinical variant first time described in an adult

Article

Abstract: Background: This is the first time in the world that the variant NM-000152 (GAA-V001):c.1555A>G; p.(

Palabras claves:

Age of Onset; pregnancy complications; clinical genomic variant, Glycogen Storage Disease Type II, Glycogen Storage Disease Type IIb

Autores:

Fabricio Gonzalez-Andrade, Gabriela Romero, Robert Salinas Suikouski

Fuentes:

google

scopus